This mutatation, identified in an ENU mutagenesis screen, comprises an A to G transition in exon 18 that results in the substitution of serine for asparagine at amino acid position 1154 (N1154S), in the tyrosine kinase domain of the receptor. (J:133634)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count